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Non-acute porphyrias v1.18 | UROD | Sarah Leigh Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v1.17 | UROD | Sarah Leigh Publications for gene: UROD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.11 | UROD | Ivone Leong Marked gene: UROD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.11 | UROD | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.11 | UROD | Ivone Leong Gene: urod has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.7 | UROD |
Ivone Leong Source Other was added to UROD. Mode of inheritance for gene UROD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD Publications for gene UROD were changed from to 27604308 |
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Non-acute porphyrias v0.4 | UROD |
Ivone Leong Source Expert Review Green was added to UROD. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Non-acute porphyrias v0.3 | UROD | Ivone Leong reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.2 | UROD |
Ivone Leong gene: UROD was added gene: UROD was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: UROD was set to |